Human Phenotype Ontology 
Grandparent Node:
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Growth abnormality (HP:0001507)help
Parent Node:
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Abnormality of body height (HP:0000002)help
Parent Node:
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Growth delay (HP:0001510)help
..Starting node
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Short stature (HP:0004322)help
Term ID: 4322
Name: Short stature
Synonym: Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile
Definition: A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Comments:
Reference: HP:0004322
Genes and Diseases:
 
       Child Nodes:
........expandPituitary dwarfism (HP:0000839) help
........expandDisproportionate short stature (HP:0003498) help
................... HP:0003521 Disproportionate short-trunk short stature
................... HP:0008873 Disproportionate short-limb short stature
........expandProportionate short stature (HP:0003508) help
................... HP:0003502 Mild short stature
................... HP:0003510 Severe short stature
................... HP:0008848 Moderately short stature
........expandBirth length less than 3rd percentile (HP:0003561) help
........expandAsymmetric short stature (HP:0008929) help

 Sister Nodes: 
..expandAbsent pubertal growth spurt (HP:0031087) help
..expandDelayed puberty (HP:0000823) help
..expandIntrauterine growth retardation (HP:0001511) help
..expandPostnatal growth retardation (HP:0008897) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0004322HP:0004322Short stature0A2ML1 CL E G H144568648ORPHA12149223336610627
HP:0004322HP:0004322Short stature0AAAS CL E G H8086869ORPHA1799913666605378
HP:0004322HP:0004322Short stature0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM1799913666605378
HP:0004322HP:0004322Short stature0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM12120601065
HP:0004322HP:0004322Short stature0AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM1146617366605113
HP:0004322HP:0004322Short stature0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM133146042603201
HP:0004322HP:0004322Short stature0ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0004322HP:0004322Short stature0ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM164178319155760
HP:0004322HP:0004322Short stature0ACD CL E G H650573322ORPHA1913525070609377
HP:0004322HP:0004322Short stature0ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM128103124171640
HP:0004322HP:0004322Short stature0ACTB CL E G H6079107ORPHA165224132102630
HP:0004322HP:0004322Short stature0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0004322HP:0004322Short stature0ADAMTS10 CL E G H817943449Mehes syndromeORPHA11516513201608990
HP:0004322HP:0004322Short stature0ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM1848217109607511
HP:0004322HP:0004322Short stature0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM112577218604539
HP:0004322HP:0004322Short stature0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0004322HP:0004322Short stature0ADAR CL E G H10351ORPHA1229316225146920
HP:0004322HP:0004322Short stature0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16817915766611386
HP:0004322HP:0004322Short stature0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM136617869604417
HP:0004322HP:0004322Short stature0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0004322HP:0004322Short stature0AGL CL E G H178366Arnold Stickler Bourne syndromeORPHA1248858321610860
HP:0004322HP:0004322Short stature0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM1248858321610860
HP:0004322HP:0004322Short stature0AHSG CL E G H1972850ORPHA1657349138680
HP:0004322HP:0004322Short stature0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM1332529722138250
HP:0004322HP:0004322Short stature0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM1332529722138250
HP:0004322HP:0004322Short stature0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1111308403609523
HP:0004322HP:0004322Short stature0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM18306414103850
HP:0004322HP:0004322Short stature0ALMS1 CL E G H784064ORPHA13161745428606844
HP:0004322HP:0004322Short stature0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0004322HP:0004322Short stature0ALPL CL E G H249241510Childhood hypophosphatasia241510C0220743OMIM1295328438171760
HP:0004322HP:0004322Short stature0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0004322HP:0004322Short stature0AMPD2 CL E G H271401805ORPHA11898469102771
HP:0004322HP:0004322Short stature0ANK1 CL E G H286251066ORPHA1111388492612641
HP:0004322HP:0004322Short stature0ANKLE2 CL E G H231412512ORPHA128129101616062
HP:0004322HP:0004322Short stature0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM128129101616062
HP:0004322HP:0004322Short stature0ANKRD11 CL E G H291232332ORPHA113472121316611192
HP:0004322HP:0004322Short stature0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0004322HP:0004322Short stature0ANTXR1 CL E G H841682067ORPHA1142421014606410
HP:0004322HP:0004322Short stature0AP4B1 CL E G H10717280763ORPHA121140572607245
HP:0004322HP:0004322Short stature0AP4E1 CL E G H23431280763ORPHA118178573607244
HP:0004322HP:0004322Short stature0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM118178573607244
HP:0004322HP:0004322Short stature0AP4M1 CL E G H9179280763ORPHA115150574602296
HP:0004322HP:0004322Short stature0AP4S1 CL E G H11154280763ORPHA1859575607243
HP:0004322HP:0004322Short stature0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1859575607243
HP:0004322HP:0004322Short stature0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM166176634107777
HP:0004322HP:0004322Short stature0ARID1A CL E G H82891465ORPHA13617511110603024
HP:0004322HP:0004322Short stature0ARID1B CL E G H574921465ORPHA118857518040614556
HP:0004322HP:0004322Short stature0ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0004322HP:0004322Short stature0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0004322HP:0004322Short stature0ARID2 CL E G H1965281465ORPHA11111518037609539
HP:0004322HP:0004322Short stature0ARL6 CL E G H84100110ORPHA1217913210608845
HP:0004322HP:0004322Short stature0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA164916876606036
HP:0004322HP:0004322Short stature0ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM146719300180
HP:0004322HP:0004322Short stature0ARVCF CL E G H421567ORPHA12477728602269
HP:0004322HP:0004322Short stature0ARX CL E G H1703022508ORPHA19846618060300382
HP:0004322HP:0004322Short stature0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0004322HP:0004322Short stature0ASAH1 CL E G H427333ORPHA171306735613468
HP:0004322HP:0004322Short stature0ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1169264746608310
HP:0004322HP:0004322Short stature0ASPM CL E G H2592662512ORPHA121379019048605481
HP:0004322HP:0004322Short stature0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM121379019048605481
HP:0004322HP:0004322Short stature0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0004322HP:0004322Short stature0ATM CL E G H472100ORPHA113248934795607585
HP:0004322HP:0004322Short stature0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM113248934795607585
HP:0004322HP:0004322Short stature0ATP6V0A2 CL E G H235452834ORPHA15630918481611716
HP:0004322HP:0004322Short stature0ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0004322HP:0004322Short stature0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0004322HP:0004322Short stature0ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0004322HP:0004322Short stature0ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1493854606939
HP:0004322HP:0004322Short stature0ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0004322HP:0004322Short stature0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1278857108746
HP:0004322HP:0004322Short stature0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1357607869300011
HP:0004322HP:0004322Short stature0ATP8A2 CL E G H517611766ORPHA1119113533605870
HP:0004322HP:0004322Short stature0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1218718802608918
HP:0004322HP:0004322Short stature0ATR CL E G H545808Baker Vinters syndromeORPHA134404882601215
HP:0004322HP:0004322Short stature0ATRIP CL E G H84126808Baker Vinters syndromeORPHA1218333499606605
HP:0004322HP:0004322Short stature0ATRX CL E G H546847ORPHA1170663886300032
HP:0004322HP:0004322Short stature0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0004322HP:0004322Short stature0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16224214262607270
HP:0004322HP:0004322Short stature0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1286356897300538
HP:0004322HP:0004322Short stature0B3GALT6 CL E G H12679275496ORPHA14023217978615291
HP:0004322HP:0004322Short stature0B3GALT6 CL E G H12679293359ORPHA14023217978615291
HP:0004322HP:0004322Short stature0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0004322HP:0004322Short stature0B4GALT7 CL E G H1128575496ORPHA19138930604327
HP:0004322HP:0004322Short stature0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19138930604327
HP:0004322HP:0004322Short stature0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM113617397603811
HP:0004322HP:0004322Short stature0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0004322HP:0004322Short stature0BBIP1 CL E G H92482110ORPHA114328093613605
HP:0004322HP:0004322Short stature0BBS1 CL E G H582110ORPHA1105309966209901
HP:0004322HP:0004322Short stature0BBS10 CL E G H79738110ORPHA110931726291610148
HP:0004322HP:0004322Short stature0BBS12 CL E G H166379110ORPHA16123726648610683
HP:0004322HP:0004322Short stature0BBS2 CL E G H583110ORPHA196277967606151
HP:0004322HP:0004322Short stature0BBS4 CL E G H585110ORPHA154217969600374
HP:0004322HP:0004322Short stature0BBS5 CL E G H129880110ORPHA13186970603650
HP:0004322HP:0004322Short stature0BBS7 CL E G H55212110ORPHA14417518758607590
HP:0004322HP:0004322Short stature0BBS9 CL E G H27241110ORPHA15329230000607968
HP:0004322HP:0004322Short stature0BCOR CL E G H54880568Aggressive fibromatosisORPHA15541520893300485
HP:0004322HP:0004322Short stature0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0004322HP:0004322Short stature0BCR CL E G H613261330ORPHA122111014151410
HP:0004322HP:0004322Short stature0BDNF CL E G H627893ORPHA135431033113505
HP:0004322HP:0004322Short stature0BLM CL E G H641125ORPHA113115161058604610
HP:0004322HP:0004322Short stature0BMP2 CL E G H650261295ORPHA137691069112261
HP:0004322HP:0004322Short stature0BMPR1B CL E G H6582639ORPHA1241951077603248
HP:0004322HP:0004322Short stature0BMPR1B CL E G H65893388ORPHA1241951077603248
HP:0004322HP:0004322Short stature0BRAF CL E G H673500ORPHA1684901097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673648ORPHA1684901097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM1684901097164757
HP:0004322HP:0004322Short stature0BRCA1 CL E G H67284ORPHA12824114981100113705
HP:0004322HP:0004322Short stature0BRCA2 CL E G H67584ORPHA13025127061101600185
HP:0004322HP:0004322Short stature0BRCA2 CL E G H675605724Fanconi anemia, complementation group D1605724C1838457OMIM13025127061101600185
HP:0004322HP:0004322Short stature0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM11712311551604902
HP:0004322HP:0004322Short stature0BRIP1 CL E G H8399084ORPHA1202305020473605882
HP:0004322HP:0004322Short stature0BTK CL E G H69547ORPHA19104211133300300
HP:0004322HP:0004322Short stature0BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM19104211133300300
HP:0004322HP:0004322Short stature0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120851148602452
HP:0004322HP:0004322Short stature0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1293231149602860
HP:0004322HP:0004322Short stature0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0004322HP:0004322Short stature0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16491151603719
HP:0004322HP:0004322Short stature0C1R CL E G H71575392ORPHA118721246613785
HP:0004322HP:0004322Short stature0C1S CL E G H71675392ORPHA110841247120580
HP:0004322HP:0004322Short stature0C8orf37 CL E G H157657110ORPHA11711927232614477
HP:0004322HP:0004322Short stature0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM131761373611492
HP:0004322HP:0004322Short stature0CA8 CL E G H7671766ORPHA14451382114815
HP:0004322HP:0004322Short stature0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM11194461497300172
HP:0004322HP:0004322Short stature0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM1121391509601763
HP:0004322HP:0004322Short stature0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA14109551514601199
HP:0004322HP:0004322Short stature0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM113621527601047
HP:0004322HP:0004322Short stature0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0004322HP:0004322Short stature0CCDC8 CL E G H839872616ORPHA133625367614145
HP:0004322HP:0004322Short stature0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM133625367614145
HP:0004322HP:0004322Short stature0CCN6 CL E G H88381159ORPHA16712771603400
HP:0004322HP:0004322Short stature0CCNQ CL E G H92002140952ORPHA11122828434300708
HP:0004322HP:0004322Short stature0CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM11122828434300708
HP:0004322HP:0004322Short stature0CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0004322HP:0004322Short stature0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA134716892606037
HP:0004322HP:0004322Short stature0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193981739603465
HP:0004322HP:0004322Short stature0CDCA7 CL E G H838792268ORPHA164614628609937
HP:0004322HP:0004322Short stature0CDH3 CL E G H10011573Craniofacial dysostosis arthrogryposis progeroid appearenceORPHA1312441762114021
HP:0004322HP:0004322Short stature0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0004322HP:0004322Short stature0CDK5RAP2 CL E G H557552512ORPHA12333518672608201
HP:0004322HP:0004322Short stature0CDK6 CL E G H10212512ORPHA11321777603368
HP:0004322HP:0004322Short stature0CDKN1C CL E G H1028436144ORPHA1814711786600856
HP:0004322HP:0004322Short stature0CDON CL E G H5093795496ORPHA11339117104608707
HP:0004322HP:0004322Short stature0CDON CL E G H50937280200ORPHA11339117104608707
HP:0004322HP:0004322Short stature0CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM116371802602593
HP:0004322HP:0004322Short stature0CENPE CL E G H1062808Baker Vinters syndromeORPHA141001856117143
HP:0004322HP:0004322Short stature0CENPE CL E G H1062616051Primary autosomal recessive microcephaly 13616051C4015080OMIM141001856117143
HP:0004322HP:0004322Short stature0CENPJ CL E G H558352512ORPHA11028517272609279
HP:0004322HP:0004322Short stature0CENPJ CL E G H55835808Baker Vinters syndromeORPHA11028517272609279
HP:0004322HP:0004322Short stature0CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM11028517272609279
HP:0004322HP:0004322Short stature0CEP135 CL E G H96622512ORPHA148829086611423
HP:0004322HP:0004322Short stature0CEP152 CL E G H229952512ORPHA12025229298613529
HP:0004322HP:0004322Short stature0CEP152 CL E G H22995808Baker Vinters syndromeORPHA12025229298613529
HP:0004322HP:0004322Short stature0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM12025229298613529
HP:0004322HP:0004322Short stature0CEP164 CL E G H228973156ORPHA1924529182614848
HP:0004322HP:0004322Short stature0CEP290 CL E G H80184110ORPHA131088429021610142
HP:0004322HP:0004322Short stature0CEP290 CL E G H801843156ORPHA131088429021610142
HP:0004322HP:0004322Short stature0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1515530794607951
HP:0004322HP:0004322Short stature0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM1515530794607951
HP:0004322HP:0004322Short stature0CEP63 CL E G H802542512ORPHA129325815614724
HP:0004322HP:0004322Short stature0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM129325815614724
HP:0004322HP:0004322Short stature0CFAP410 CL E G H755602271Spondylometaphyseal dysplasia axial602271C1865695OMIM11721260603191
HP:0004322HP:0004322Short stature0CHCHD10 CL E G H400916457050ORPHA12716315559615903
HP:0004322HP:0004322Short stature0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM12716315559615903
HP:0004322HP:0004322Short stature0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0004322HP:0004322Short stature0CHD7 CL E G H55636138ORPHA1884126620626608892
HP:0004322HP:0004322Short stature0CHRNG CL E G H11462990ORPHA1351601967100730
HP:0004322HP:0004322Short stature0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0004322HP:0004322Short stature0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0004322HP:0004322Short stature0CIT CL E G H111132512ORPHA1151131985605629
HP:0004322HP:0004322Short stature0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM1151131985605629
HP:0004322HP:0004322Short stature0CLCN5 CL E G H1184300009Dent disease 1300009C1848336OMIM12743592023300008
HP:0004322HP:0004322Short stature0CLCN5 CL E G H1184300554Hypophosphatemic rickets, X-linked recessive300554C1845168OMIM12743592023300008
HP:0004322HP:0004322Short stature0CLCN5 CL E G H1184308990Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis308990C1839874OMIM12743592023300008
HP:0004322HP:0004322Short stature0CLCN7 CL E G H118653ORPHA11002682025602727
HP:0004322HP:0004322Short stature0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0004322HP:0004322Short stature0CLMP CL E G H798272301ORPHA1136624039611693
HP:0004322HP:0004322Short stature0COG4 CL E G H2583985172ORPHA1614118620606976
HP:0004322HP:0004322Short stature0COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0004322HP:0004322Short stature0COL11A1 CL E G H13012021ORPHA11065602186120280
HP:0004322HP:0004322Short stature0COL11A1 CL E G H1301250984ORPHA11065602186120280
HP:0004322HP:0004322Short stature0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0004322HP:0004322Short stature0COL11A2 CL E G H13022021ORPHA1594712187120290
HP:0004322HP:0004322Short stature0COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM1594712187120290
HP:0004322HP:0004322Short stature0COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM196711052197120150
HP:0004322HP:0004322Short stature0COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM15237942198120160
HP:0004322HP:0004322Short stature0COL27A1 CL E G H85301615155Steel syndrome615155C3554594OMIM1825822986608461
HP:0004322HP:0004322Short stature0COL2A1 CL E G H12801856ORPHA15707312200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H128085198ORPHA15707312200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H128093316ORPHA15707312200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H128094068ORPHA15707312200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H1280150600Coxa plana150600C0023234OMIM15707312200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM15707312200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H12802380Freiberg's diseaseORPHA15707312200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H1280604864Osteoarthritis with mild chondrodysplasia604864C1858079OMIM15707312200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM15707312200120140
HP:0004322HP:0004322Short stature0COL3A1 CL E G H1281130050Ehlers-Danlos syndrome, type 4130050C0268338OMIM164516472201120180
HP:0004322HP:0004322Short stature0COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA164516472201120180
HP:0004322HP:0004322Short stature0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA164516472201120180
HP:0004322HP:0004322Short stature0COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM115916302209120215
HP:0004322HP:0004322Short stature0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA115916302209120215
HP:0004322HP:0004322Short stature0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119111482212120240
HP:0004322HP:0004322Short stature0COL9A1 CL E G H1297166002ORPHA162812217120210
HP:0004322HP:0004322Short stature0COL9A1 CL E G H1297250984ORPHA162812217120210
HP:0004322HP:0004322Short stature0COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM162812217120210
HP:0004322HP:0004322Short stature0COL9A2 CL E G H1298166002ORPHA1132152218120260
HP:0004322HP:0004322Short stature0COL9A2 CL E G H1298250984ORPHA1132152218120260
HP:0004322HP:0004322Short stature0COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM1132152218120260
HP:0004322HP:0004322Short stature0COL9A3 CL E G H1299166002ORPHA1171842219120270
HP:0004322HP:0004322Short stature0COL9A3 CL E G H1299250984ORPHA1171842219120270
HP:0004322HP:0004322Short stature0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0004322HP:0004322Short stature0COMT CL E G H1312567ORPHA1155552228116790
HP:0004322HP:0004322Short stature0COPB2 CL E G H92762512ORPHA14332232606990
HP:0004322HP:0004322Short stature0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151642291300885
HP:0004322HP:0004322Short stature0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM151642291300885
HP:0004322HP:0004322Short stature0CPLANE1 CL E G H652502754ORPHA111859425801614571
HP:0004322HP:0004322Short stature0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0004322HP:0004322Short stature0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0004322HP:0004322Short stature0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0004322HP:0004322Short stature0CRKL CL E G H1399261330ORPHA1163762363602007
HP:0004322HP:0004322Short stature0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0004322HP:0004322Short stature0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM13454426169613129
HP:0004322HP:0004322Short stature0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13454426169613129
HP:0004322HP:0004322Short stature0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM1189613723604167
HP:0004322HP:0004322Short stature0CTDP1 CL E G H915048431ORPHA112472498604927
HP:0004322HP:0004322Short stature0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM112472498604927
HP:0004322HP:0004322Short stature0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA1371612516604275
HP:0004322HP:0004322Short stature0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11604182518606272
HP:0004322HP:0004322Short stature0CTSK CL E G H1513763ORPHA158972536601105
HP:0004322HP:0004322Short stature0CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM158972536601105
HP:0004322HP:0004322Short stature0CUL4B CL E G H845085293ORPHA1402472555300304
HP:0004322HP:0004322Short stature0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0004322HP:0004322Short stature0CUL7 CL E G H98202616ORPHA18524821024609577
HP:0004322HP:0004322Short stature0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18524821024609577
HP:0004322HP:0004322Short stature0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM175310664617170
HP:0004322HP:0004322Short stature0CYB5A CL E G H152890796ORPHA171422570613218
HP:0004322HP:0004322Short stature0CYP11B1 CL E G H158490795ORPHA11613222591610613
HP:0004322HP:0004322Short stature0CYP11B1 CL E G H1584202010Deficiency of steroid 11-beta-monooxygenase202010C0268292OMIM11613222591610613
HP:0004322HP:0004322Short stature0CYP17A1 CL E G H158690793ORPHA11301272593609300
HP:0004322HP:0004322Short stature0CYP17A1 CL E G H158690796ORPHA11301272593609300
HP:0004322HP:0004322Short stature0CYP19A1 CL E G H1588139300Familial gynecomastia, due to increased aromatase activity139300C1970109OMIM1731512594107910
HP:0004322HP:0004322Short stature0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM11915229106615003
HP:0004322HP:0004322Short stature0DDOST CL E G H1650300536ORPHA121062728602202
HP:0004322HP:0004322Short stature0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0004322HP:0004322Short stature0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0004322HP:0004322Short stature0DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM1153592876602121
HP:0004322HP:0004322Short stature0DISP1 CL E G H84976280200ORPHA11110019711607502
HP:0004322HP:0004322Short stature0DKC1 CL E G H17363322ORPHA1753222890300126
HP:0004322HP:0004322Short stature0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1753222890300126
HP:0004322HP:0004322Short stature0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0004322HP:0004322Short stature0DLL1 CL E G H28514280200ORPHA1191322908606582
HP:0004322HP:0004322Short stature0DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA1261262909602768
HP:0004322HP:0004322Short stature0DMP1 CL E G H1758289176ORPHA1111072932600980
HP:0004322HP:0004322Short stature0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM191032938612186
HP:0004322HP:0004322Short stature0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM181462939601810
HP:0004322HP:0004322Short stature0DNAJC21 CL E G H134218811Balo diseaseORPHA1116027030617048
HP:0004322HP:0004322Short stature0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM1116027030617048
HP:0004322HP:0004322Short stature0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1116027030617048
HP:0004322HP:0004322Short stature0DNAJC3 CL E G H5611445062ORPHA14809439601184
HP:0004322HP:0004322Short stature0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM14809439601184
HP:0004322HP:0004322Short stature0DNMT3B CL E G H17892268ORPHA1572672979602900
HP:0004322HP:0004322Short stature0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM1572672979602900
HP:0004322HP:0004322Short stature0DPF2 CL E G H59771465ORPHA19149964601671
HP:0004322HP:0004322Short stature0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM16923003603527
HP:0004322HP:0004322Short stature0DPP6 CL E G H18042514ORPHA111813010126141
HP:0004322HP:0004322Short stature0DPP6 CL E G H1804616311Mental retardation, autosomal dominant 33616311C4225375OMIM111813010126141
HP:0004322HP:0004322Short stature0DUOX2 CL E G H5050695716ORPHA118530613273606759
HP:0004322HP:0004322Short stature0DUOXA2 CL E G H40575395716ORPHA1185432698612772
HP:0004322HP:0004322Short stature0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM115773087601368
HP:0004322HP:0004322Short stature0DYNC2H1 CL E G H79659613091Short-rib thoracic dysplasia 3 with or without polydactyly613091C2751311OMIM12078892962603297
HP:0004322HP:0004322Short stature0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0004322HP:0004322Short stature0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0004322HP:0004322Short stature0ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM1331063147605896
HP:0004322HP:0004322Short stature0EFL1 CL E G H79631811Balo diseaseORPHA135725789617538
HP:0004322HP:0004322Short stature0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0004322HP:0004322Short stature0EFTUD2 CL E G H934379113ORPHA110112430858603892
HP:0004322HP:0004322Short stature0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM110112430858603892
HP:0004322HP:0004322Short stature0EHHADH CL E G H1962615605Fanconi renotubular syndrome 3615605C3810100OMIM111553247607037
HP:0004322HP:0004322Short stature0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA1811253255604032
HP:0004322HP:0004322Short stature0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM1811253255604032
HP:0004322HP:0004322Short stature0EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM123418683608546
HP:0004322HP:0004322Short stature0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0004322HP:0004322Short stature0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0004322HP:0004322Short stature0EMG1 CL E G H104361270ORPHA115916912611531
HP:0004322HP:0004322Short stature0ENPP1 CL E G H5167289176ORPHA1772743356173335
HP:0004322HP:0004322Short stature0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0004322HP:0004322Short stature0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA16849529331615068
HP:0004322HP:0004322Short stature0ERCC1 CL E G H20671466ORPHA18533433126380
HP:0004322HP:0004322Short stature0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM18533433126380
HP:0004322HP:0004322Short stature0ERCC2 CL E G H20681466ORPHA11082273434126340
HP:0004322HP:0004322Short stature0ERCC2 CL E G H2068220295ORPHA11082273434126340
HP:0004322HP:0004322Short stature0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11082273434126340
HP:0004322HP:0004322Short stature0ERCC3 CL E G H2071220295ORPHA1201223435133510
HP:0004322HP:0004322Short stature0ERCC3 CL E G H2071616390Trichothiodystrophy 2, photosensitive616390C4225344OMIM1201223435133510
HP:0004322HP:0004322Short stature0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1201223435133510
HP:0004322HP:0004322Short stature0ERCC4 CL E G H207284ORPHA1723483436133520
HP:0004322HP:0004322Short stature0ERCC4 CL E G H2072220295ORPHA1723483436133520
HP:0004322HP:0004322Short stature0ERCC4 CL E G H2072615272Fanconi anemia, complementation group Q615272C3808988OMIM1723483436133520
HP:0004322HP:0004322Short stature0ERCC5 CL E G H20731466ORPHA1592633437133530
HP:0004322HP:0004322Short stature0ERCC5 CL E G H2073220295ORPHA1592633437133530
HP:0004322HP:0004322Short stature0ERCC6 CL E G H20741466ORPHA11404993438609413
HP:0004322HP:0004322Short stature0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM13121527230609353
HP:0004322HP:0004322Short stature0EXT1 CL E G H2131321ORPHA15324093512608177
HP:0004322HP:0004322Short stature0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA15324093512608177
HP:0004322HP:0004322Short stature0EXT1 CL E G H2131133700Multiple congenital exostosis133700C0015306OMIM15324093512608177
HP:0004322HP:0004322Short stature0EXT2 CL E G H2132321ORPHA12582753513608210
HP:0004322HP:0004322Short stature0EXT2 CL E G H2132133701Multiple exostoses type 2133701C1851413OMIM12582753513608210
HP:0004322HP:0004322Short stature0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA12212903519601653
HP:0004322HP:0004322Short stature0FAM111A CL E G H6390193325ORPHA194124725615292
HP:0004322HP:0004322Short stature0FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM194124725615292
HP:0004322HP:0004322Short stature0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM12813922140611061
HP:0004322HP:0004322Short stature0FANCA CL E G H217584ORPHA168917063582607139
HP:0004322HP:0004322Short stature0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM168917063582607139
HP:0004322HP:0004322Short stature0FANCB CL E G H218784ORPHA1213523583300515
HP:0004322HP:0004322Short stature0FANCC CL E G H217684ORPHA1658823584613899
HP:0004322HP:0004322Short stature0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM1658823584613899
HP:0004322HP:0004322Short stature0FANCD2 CL E G H217784ORPHA1644293585613984
HP:0004322HP:0004322Short stature0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM1644293585613984
HP:0004322HP:0004322Short stature0FANCE CL E G H217884ORPHA1172013586613976
HP:0004322HP:0004322Short stature0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM1172013586613976
HP:0004322HP:0004322Short stature0FANCF CL E G H218884ORPHA1162023587613897
HP:0004322HP:0004322Short stature0FANCG CL E G H218984ORPHA1923253588602956
HP:0004322HP:0004322Short stature0FANCI CL E G H5521584ORPHA14552125568611360
HP:0004322HP:0004322Short stature0FANCL CL E G H5512084ORPHA12417620748608111
HP:0004322HP:0004322Short stature0FANCM CL E G H5769784ORPHA15369723168609644
HP:0004322HP:0004322Short stature0FAS CL E G H3553437ORPHA114216911920134637
HP:0004322HP:0004322Short stature0FBN1 CL E G H22002084ORPHA1272142843603134797
HP:0004322HP:0004322Short stature0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM1272142843603134797
HP:0004322HP:0004322Short stature0FBN1 CL E G H22003449Mehes syndromeORPHA1272142843603134797
HP:0004322HP:0004322Short stature0FGD1 CL E G H2245915ORPHA1512763663300546
HP:0004322HP:0004322Short stature0FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM1201413680605380
HP:0004322HP:0004322Short stature0FGF8 CL E G H2253280200ORPHA141543686600483
HP:0004322HP:0004322Short stature0FGFR1 CL E G H2260280200ORPHA12653883688136350
HP:0004322HP:0004322Short stature0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM12653883688136350
HP:0004322HP:0004322Short stature0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA12653883688136350
HP:0004322HP:0004322Short stature0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11593363689176943
HP:0004322HP:0004322Short stature0FGFR3 CL E G H226193274ORPHA1774313690134934
HP:0004322HP:0004322Short stature0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0004322HP:0004322Short stature0FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0004322HP:0004322Short stature0FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM14416118169607063
HP:0004322HP:0004322Short stature0FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA14416118169607063
HP:0004322HP:0004322Short stature0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM14416118169607063
HP:0004322HP:0004322Short stature0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0004322HP:0004322Short stature0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0004322HP:0004322Short stature0FLII CL E G H2314819ORPHA121533750600362
HP:0004322HP:0004322Short stature0FLNA CL E G H23162301ORPHA127114723754300017
HP:0004322HP:0004322Short stature0FLNA CL E G H23162484Glaucoma type 1CORPHA127114723754300017
HP:0004322HP:0004322Short stature0FLNA CL E G H2316311300Oto-palato-digital syndrome, type I311300C0265251OMIM127114723754300017
HP:0004322HP:0004322Short stature0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0004322HP:0004322Short stature0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM11225203755603381
HP:0004322HP:0004322Short stature0FMR1 CL E G H2332261483ORPHA1812813775309550
HP:0004322HP:0004322Short stature0FN1 CL E G H2335184255Spondylometaphyseal dysplasia - Sutcliffe type184255C0432221OMIM1261283778135600
HP:0004322HP:0004322Short stature0FOXE1 CL E G H230495713ORPHA131483806602617
HP:0004322HP:0004322Short stature0FOXH1 CL E G H8928280200ORPHA1331883814603621
HP:0004322HP:0004322Short stature0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0004322HP:0004322Short stature0G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM11184056613742
HP:0004322HP:0004322Short stature0GAS1 CL E G H2619280200ORPHA16424165139185
HP:0004322HP:0004322Short stature0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM1152354170305371
HP:0004322HP:0004322Short stature0GATA4 CL E G H2626251071ORPHA11713414173600576
HP:0004322HP:0004322Short stature0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14942064177606463
HP:0004322HP:0004322Short stature0GDF5 CL E G H82002639ORPHA159984220601146
HP:0004322HP:0004322Short stature0GDF5 CL E G H820063442ORPHA159984220601146
HP:0004322HP:0004322Short stature0GDF5 CL E G H820093388ORPHA159984220601146
HP:0004322HP:0004322Short stature0GDF5 CL E G H8200615072Brachydactyly, type a1, c615072C3554446OMIM159984220601146
HP:0004322HP:0004322Short stature0GDF5 CL E G H8200113100Type C brachydactyly113100C1862103OMIM159984220601146
HP:0004322HP:0004322Short stature0GH1 CL E G H2688612781Isolated growth hormone deficiency type 1B612781C2748571OMIM1109974261139250
HP:0004322HP:0004322Short stature0GHR CL E G H2690314802ORPHA11211814263600946
HP:0004322HP:0004322Short stature0GHR CL E G H2690604271Short stature, idiopathic, autosomal604271C1858656OMIM11211814263600946
HP:0004322HP:0004322Short stature0GHR CL E G H2690615925Short stature, idiopathic, autosomal615925C1858656OMIM11211814263600946
HP:0004322HP:0004322Short stature0GHSR CL E G H2693314811ORPHA1151074267601898
HP:0004322HP:0004322Short stature0GHSR CL E G H2693604271Short stature, idiopathic, autosomal604271C1858656OMIM1151074267601898
HP:0004322HP:0004322Short stature0GHSR CL E G H2693615925Short stature, idiopathic, autosomal615925C1858656OMIM1151074267601898
HP:0004322HP:0004322Short stature0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0004322HP:0004322Short stature0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11091414274121014
HP:0004322HP:0004322Short stature0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA1401224285603324
HP:0004322HP:0004322Short stature0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA121464286605425
HP:0004322HP:0004322Short stature0GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA1341574288604418
HP:0004322HP:0004322Short stature0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1341574288604418
HP:0004322HP:0004322Short stature0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1371864289300474
HP:0004322HP:0004322Short stature0GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0004322HP:0004322Short stature0GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM12313084298611458
HP:0004322HP:0004322Short stature0GLE1 CL E G H27331486Congenital herpes simplexORPHA1181644315603371
HP:0004322HP:0004322Short stature0GLI2 CL E G H2736280200ORPHA1883724318165230
HP:0004322HP:0004322Short stature0GLI2 CL E G H2736615849Culler-Jones syndrome615849C4014479OMIM1883724318165230
HP:0004322HP:0004322Short stature0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12445374319165240
HP:0004322HP:0004322Short stature0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM12445374319165240
HP:0004322HP:0004322Short stature0GM2A CL E G H2760309246ORPHA1121264367613109
HP:0004322HP:0004322Short stature0GMPPA CL E G H29926869ORPHA1127422923615495
HP:0004322HP:0004322Short stature0GNAS CL E G H277879443ORPHA12792164392139320
HP:0004322HP:0004322Short stature0GNAS CL E G H277879444ORPHA12792164392139320
HP:0004322HP:0004322Short stature0GNAS CL E G H277894089ORPHA12792164392139320
HP:0004322HP:0004322Short stature0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12792164392139320
HP:0004322HP:0004322Short stature0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM12792164392139320
HP:0004322HP:0004322Short stature0GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM12792164392139320
HP:0004322HP:0004322Short stature0GNPTAB CL E G H79158576ORPHA118846229670607840
HP:0004322HP:0004322Short stature0GNPTAB CL E G H79158252600Pseudo-Hurler polydystrophy252600C0033788OMIM118846229670607840
HP:0004322HP:0004322Short stature0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM14927123026607838
HP:0004322HP:0004322Short stature0GP1BB CL E G H2812567ORPHA1534044440138720
HP:0004322HP:0004322Short stature0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM110284455138420
HP:0004322HP:0004322Short stature0GPR161 CL E G H2343295496ORPHA113223694612250
HP:0004322HP:0004322Short stature0GRHL2 CL E G H79977616029Ectodermal dysplasia/short stature syndrome616029C4014987OMIM113962799608576
HP:0004322HP:0004322Short stature0GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM1242434573305915
HP:0004322HP:0004322Short stature0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM1201184593604473
HP:0004322HP:0004322Short stature0GSC CL E G H145258602471Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities602471C1865361OMIM17364612138890
HP:0004322HP:0004322Short stature0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM12694651189964
HP:0004322HP:0004322Short stature0GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM163321157608780
HP:0004322HP:0004322Short stature0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0004322HP:0004322Short stature0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0004322HP:0004322Short stature0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0004322HP:0004322Short stature0HBA1 CL E G H303998791ORPHA12173464823141800
HP:0004322HP:0004322Short stature0HBA2 CL E G H304098791ORPHA12962744824141850
HP:0004322HP:0004322Short stature0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142014837300056
HP:0004322HP:0004322Short stature0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM1184864839300019
HP:0004322HP:0004322Short stature0HDAC4 CL E G H97591001Branchial arch defectsORPHA11622314063605314
HP:0004322HP:0004322Short stature0HDAC8 CL E G H558693459ORPHA15622713315300269
HP:0004322HP:0004322Short stature0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0004322HP:0004322Short stature0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0004322HP:0004322Short stature0HELLS CL E G H30702268ORPHA16514861603946
HP:0004322HP:0004322Short stature0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0004322HP:0004322Short stature0HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA164515977608059
HP:0004322HP:0004322Short stature0HES7 CL E G H84667613686Spondylocostal dysostosis 4, autosomal recessive613686C3150942OMIM164515977608059
HP:0004322HP:0004322Short stature0HESX1 CL E G H882095496ORPHA127464877601802
HP:0004322HP:0004322Short stature0HESX1 CL E G H8820226307ORPHA127464877601802
HP:0004322HP:0004322Short stature0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA127464877601802
HP:0004322HP:0004322Short stature0HESX1 CL E G H8820182230Septo-optic dysplasia sequence182230C0338503OMIM127464877601802
HP:0004322HP:0004322Short stature0HIRA CL E G H7290567ORPHA153994916600237
HP:0004322HP:0004322Short stature0HMGA2 CL E G H809194063ORPHA121235009600698
HP:0004322HP:0004322Short stature0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111865004300193
HP:0004322HP:0004322Short stature0HNF1B CL E G H6928261265ORPHA124048811630189907
HP:0004322HP:0004322Short stature0HNF4A CL E G H3172616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young616026C4014962OMIM11572835024600281
HP:0004322HP:0004322Short stature0HNRNPA1 CL E G H317852430ORPHA112535031164017
HP:0004322HP:0004322Short stature0HNRNPA2B1 CL E G H318152430ORPHA15735033600124
HP:0004322HP:0004322Short stature0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0004322HP:0004322Short stature0HNRNPU CL E G H3192238769ORPHA1683215048602869
HP:0004322HP:0004322Short stature0HOXD13 CL E G H323993387ORPHA142715136142989
HP:0004322HP:0004322Short stature0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM14282725157308000
HP:0004322HP:0004322Short stature0HRAS CL E G H32653071ORPHA1342955173190020
HP:0004322HP:0004322Short stature0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0004322HP:0004322Short stature0HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM1342955173190020
HP:0004322HP:0004322Short stature0HSD11B2 CL E G H3291218030Apparent mineralocorticoid excess218030C2936861OMIM149625209614232
HP:0004322HP:0004322Short stature0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM11013055213601860
HP:0004322HP:0004322Short stature0HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0004322HP:0004322Short stature0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0004322HP:0004322Short stature0HYAL1 CL E G H337367041ORPHA13795320607071
HP:0004322HP:0004322Short stature0HYAL1 CL E G H3373601492Deficiency of hyaluronoglucosaminidase601492C1291490OMIM13795320607071
HP:0004322HP:0004322Short stature0IARS2 CL E G H55699436174ORPHA1911429685612801
HP:0004322HP:0004322Short stature0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM1911429685612801
HP:0004322HP:0004322Short stature0IDH1 CL E G H3417163634ORPHA15535382147700
HP:0004322HP:0004322Short stature0IDH2 CL E G H3418163634ORPHA171025383147650
HP:0004322HP:0004322Short stature0IDUA CL E G H342593473ORPHA12916225391252800
HP:0004322HP:0004322Short stature0IDUA CL E G H342593476ORPHA12916225391252800
HP:0004322HP:0004322Short stature0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0004322HP:0004322Short stature0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM12916225391252800
HP:0004322HP:0004322Short stature0IFIH1 CL E G H6413551ORPHA12828618873606951
HP:0004322HP:0004322Short stature0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12828618873606951
HP:0004322HP:0004322Short stature0IFITM5 CL E G H387733610967Osteogenesis imperfecta type 5610967C1970414OMIM136316644614757
HP:0004322HP:0004322Short stature0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17253029077614620
HP:0004322HP:0004322Short stature0IFT172 CL E G H26160110ORPHA12726930391607386
HP:0004322HP:0004322Short stature0IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM12726930391607386
HP:0004322HP:0004322Short stature0IFT27 CL E G H11020110ORPHA145218626615870
HP:0004322HP:0004322Short stature0IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM176429669614068
HP:0004322HP:0004322Short stature0IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0004322HP:0004322Short stature0IGBP1 CL E G H347652055ORPHA121425461300139
HP:0004322HP:0004322Short stature0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM121425461300139
HP:0004322HP:0004322Short stature0IGF1 CL E G H347973272ORPHA1131675464147440
HP:0004322HP:0004322Short stature0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131675464147440
HP:0004322HP:0004322Short stature0IGF1R CL E G H348073273ORPHA1796225465147370
HP:0004322HP:0004322Short stature0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0004322HP:0004322Short stature0IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM111675466147470
HP:0004322HP:0004322Short stature0IHH CL E G H354963446ORPHA1331155956600726
HP:0004322HP:0004322Short stature0IHH CL E G H354993388ORPHA1331155956600726
HP:0004322HP:0004322Short stature0IHH CL E G H3549112500Type A1 brachydactyly112500C1862151OMIM1331155956600726
HP:0004322HP:0004322Short stature0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA11512955961300248
HP:0004322HP:0004322Short stature0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0004322HP:0004322Short stature0IMPAD1 CL E G H54928614078Chondrodysplasia with joint dislocations, GPAPP type614078C3279757OMIM1526019614010
HP:0004322HP:0004322Short stature0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM11013633882607875
HP:0004322HP:0004322Short stature0INSR CL E G H3643769ORPHA11964076091147670
HP:0004322HP:0004322Short stature0INSR CL E G H3643508Acroosteolysis dominant typeORPHA11964076091147670
HP:0004322HP:0004322Short stature0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM11964076091147670
HP:0004322HP:0004322Short stature0INVS CL E G H271303156ORPHA13532317870243305
HP:0004322HP:0004322Short stature0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0004322HP:0004322Short stature0IQCB1 CL E G H96573156ORPHA14315528949609237
HP:0004322HP:0004322Short stature0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0004322HP:0004322Short stature0ITGB6 CL E G H36942850ORPHA17606161147558
HP:0004322HP:0004322Short stature0IYD CL E G H38943495716ORPHA154621071612025
HP:0004322HP:0004322Short stature0JMJD1C CL E G H221037567ORPHA12950912313604503
HP:0004322HP:0004322Short stature0KAT6A CL E G H7994457193ORPHA12921913013601408
HP:0004322HP:0004322Short stature0KAT6B CL E G H23522648ORPHA17622817582605880
HP:0004322HP:0004322Short stature0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM1701766255600359
HP:0004322HP:0004322Short stature0KDM5C CL E G H824285279ORPHA15632711114314690
HP:0004322HP:0004322Short stature0KDM6A CL E G H74032322ORPHA18131112637300128
HP:0004322HP:0004322Short stature0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18131112637300128
HP:0004322HP:0004322Short stature0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA110894021136440
HP:0004322HP:0004322Short stature0KIAA0556 CL E G H23247616784Joubert syndrome 26616784C4084843OMIM1229068616650
HP:0004322HP:0004322Short stature0KIAA0753 CL E G H98512754ORPHA176529110617112
HP:0004322HP:0004322Short stature0KIF14 CL E G H99282512ORPHA1167719181611279
HP:0004322HP:0004322Short stature0KIF1BP CL E G H2612866629ORPHA11023419609367
HP:0004322HP:0004322Short stature0KIF1C CL E G H10749397946ORPHA1171976317603060
HP:0004322HP:0004322Short stature0KIF22 CL E G H383593360ORPHA142726391603213
HP:0004322HP:0004322Short stature0KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM142726391603213
HP:0004322HP:0004322Short stature0KIF7 CL E G H3746542754ORPHA14538630497611254
HP:0004322HP:0004322Short stature0KISS1R CL E G H84634176400Central precocious puberty176400C0342543OMIM139784510604161
HP:0004322HP:0004322Short stature0KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM1105766345600599
HP:0004322HP:0004322Short stature0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0004322HP:0004322Short stature0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM11273797132159555
HP:0004322HP:0004322Short stature0KMT2D CL E G H80852322ORPHA171213507133602113
HP:0004322HP:0004322Short stature0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171213507133602113
HP:0004322HP:0004322Short stature0KNL1 CL E G H570822512ORPHA1621624054609173
HP:0004322HP:0004322Short stature0KRAS CL E G H3845648ORPHA1452746407190070
HP:0004322HP:0004322Short stature0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0004322HP:0004322Short stature0KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM1452746407190070
HP:0004322HP:0004322Short stature0KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM1452746407190070
HP:0004322HP:0004322Short stature0L1CAM CL E G H38972466ORPHA12935196470308840
HP:0004322HP:0004322Short stature0L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM12935196470308840
HP:0004322HP:0004322Short stature0LAGE3 CL E G H82702065ORPHA1321926058300060
HP:0004322HP:0004322Short stature0LAMTOR2 CL E G H2895690023ORPHA112529796610389
HP:0004322HP:0004322Short stature0LAMTOR2 CL E G H28956610798Immunodeficiency due to defect in mapbp-interacting protein610798C1835829OMIM112529796610389
HP:0004322HP:0004322Short stature0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1284066511603590
HP:0004322HP:0004322Short stature0LAS1L CL E G H818873459ORPHA1417225726300964
HP:0004322HP:0004322Short stature0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0004322HP:0004322Short stature0LEMD3 CL E G H2359294063ORPHA13413828887607844
HP:0004322HP:0004322Short stature0LEMD3 CL E G H23592166119ORPHA13413828887607844
HP:0004322HP:0004322Short stature0LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA13413828887607844
HP:0004322HP:0004322Short stature0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0004322HP:0004322Short stature0LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA171096560602576
HP:0004322HP:0004322Short stature0LHX1 CL E G H3975261265ORPHA171156593601999
HP:0004322HP:0004322Short stature0LHX3 CL E G H8022226307ORPHA1181756595600577
HP:0004322HP:0004322Short stature0LHX3 CL E G H8022231720ORPHA1181756595600577
HP:0004322HP:0004322Short stature0LHX3 CL E G H8022221750Pituitary hormone deficiency, combined 3221750C3489787OMIM1181756595600577
HP:0004322HP:0004322Short stature0LHX4 CL E G H8988495496ORPHA12311621734602146
HP:0004322HP:0004322Short stature0LHX4 CL E G H89884226307ORPHA12311621734602146
HP:0004322HP:0004322Short stature0LIFR CL E G H39773206ORPHA1323466597151443
HP:0004322HP:0004322Short stature0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1323466597151443
HP:0004322HP:0004322Short stature0LIG4 CL E G H3981235ORPHA1403176601601837
HP:0004322HP:0004322Short stature0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0004322HP:0004322Short stature0LMNA CL E G H400079474ORPHA157411526636150330
HP:0004322HP:0004322Short stature0LMNA CL E G H400090153ORPHA157411526636150330
HP:0004322HP:0004322Short stature0LMNA CL E G H4000740Aortic arch interruptionORPHA157411526636150330
HP:0004322HP:0004322Short stature0LMX1B CL E G H40102613ORPHA11953046654602575
HP:0004322HP:0004322Short stature0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11953046654602575
HP:0004322HP:0004322Short stature0LONP1 CL E G H93611458ORPHA1191319479605490
HP:0004322HP:0004322Short stature0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM12214116697603506
HP:0004322HP:0004322Short stature0LTBP2 CL E G H40533449Mehes syndromeORPHA1292996715602091
HP:0004322HP:0004322Short stature0LTBP2 CL E G H4053614819Weill-Marchesani syndrome 3614819C3553785OMIM1292996715602091
HP:0004322HP:0004322Short stature0LTBP3 CL E G H4054601216Verloes Bourguignon syndrome601216C1832594OMIM113926716602090
HP:0004322HP:0004322Short stature0LZTFL1 CL E G H54585110ORPHA13406741606568
HP:0004322HP:0004322Short stature0LZTR1 CL E G H8216648ORPHA1866996742600574
HP:0004322HP:0004322Short stature0LZTR1 CL E G H8216616564Noonan syndrome 10616564C4225280OMIM1866996742600574
HP:0004322HP:0004322Short stature0MAD2L2 CL E G H1045984ORPHA11546764604094
HP:0004322HP:0004322Short stature0MAD2L2 CL E G H10459617243Fanconi anemia, complementation group V617243C4310652OMIM11546764604094
HP:0004322HP:0004322Short stature0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM1221726776177075
HP:0004322HP:0004322Short stature0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0004322HP:0004322Short stature0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0004322HP:0004322Short stature0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0004322HP:0004322Short stature0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0004322HP:0004322Short stature0MAP2K2 CL E G H5605638ORPHA1353386842601263
HP:0004322HP:0004322Short stature0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM1353386842601263
HP:0004322HP:0004322Short stature0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0004322HP:0004322Short stature0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113646859602614
HP:0004322HP:0004322Short stature0MAPK1 CL E G H5594261330ORPHA131126871176948
HP:0004322HP:0004322Short stature0MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM167425133609728
HP:0004322HP:0004322Short stature0MBD5 CL E G H55777228402ORPHA19166420444611472
HP:0004322HP:0004322Short stature0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0004322HP:0004322Short stature0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM12620715455300294
HP:0004322HP:0004322Short stature0MCM9 CL E G H254394616185Ovarian dysgenesis 4616185C4015409OMIM1104621484610098
HP:0004322HP:0004322Short stature0MCPH1 CL E G H796482512ORPHA1354036954607117
HP:0004322HP:0004322Short stature0MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0004322HP:0004322Short stature0MECP2 CL E G H4204778ORPHA1105014426990300005
HP:0004322HP:0004322Short stature0MECP2 CL E G H42041762ORPHA1105014426990300005
HP:0004322HP:0004322Short stature0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM1105014426990300005
HP:0004322HP:0004322Short stature0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0004322HP:0004322Short stature0MEIS2 CL E G H4212261190ORPHA123577001601740
HP:0004322HP:0004322Short stature0MEIS2 CL E G H4212600987Cleft palate, cardiac defects, and mental retardation600987C1832950OMIM123577001601740
HP:0004322HP:0004322Short stature0MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA1615429659605195
HP:0004322HP:0004322Short stature0MFSD2A CL E G H848792512ORPHA163325897614397
HP:0004322HP:0004322Short stature0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0004322HP:0004322Short stature0MIR17HG CL E G H407975614326Feingold syndrome 2614326C3280489OMIM197223564609415
HP:0004322HP:0004322Short stature0MKKS CL E G H8195110ORPHA1601947108604896
HP:0004322HP:0004322Short stature0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0004322HP:0004322Short stature0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0004322HP:0004322Short stature0MKS1 CL E G H54903110ORPHA1523347121609883
HP:0004322HP:0004322Short stature0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0004322HP:0004322Short stature0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM1392377150606761
HP:0004322HP:0004322Short stature0MMP13 CL E G H43221040ORPHA110957159600108
HP:0004322HP:0004322Short stature0MMP13 CL E G H432293356ORPHA110957159600108
HP:0004322HP:0004322Short stature0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM1271487166120360
HP:0004322HP:0004322Short stature0MMP9 CL E G H43181040ORPHA117817176120361
HP:0004322HP:0004322Short stature0MPL CL E G H43523319ORPHA1571877217159530
HP:0004322HP:0004322Short stature0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM1501247224137960
HP:0004322HP:0004322Short stature0MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM144810545607545
HP:0004322HP:0004322Short stature0MSTO1 CL E G H55154502423ORPHA183529678617619
HP:0004322HP:0004322Short stature0MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0004322HP:0004322Short stature0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0004322HP:0004322Short stature0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0004322HP:0004322Short stature0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0004322HP:0004322Short stature0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0004322HP:0004322Short stature0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0004322HP:0004322Short stature0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0004322HP:0004322Short stature0MT-ND5 CL E G H4540551ORPHA17461516005
HP:0004322HP:0004322Short stature0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0004322HP:0004322Short stature0MT-RNR1 CL E G H4549551ORPHA17470180450
HP:0004322HP:0004322Short stature0MT-TF CL E G H4558550ORPHA17481590070
HP:0004322HP:0004322Short stature0MT-TF CL E G H4558551ORPHA17481590070
HP:0004322HP:0004322Short stature0MT-TH CL E G H4564550ORPHA17487590040
HP:0004322HP:0004322Short stature0MT-TH CL E G H4564551ORPHA17487590040
HP:0004322HP:0004322Short stature0MT-TK CL E G H4566551ORPHA17489590060
HP:0004322HP:0004322Short stature0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0004322HP:0004322Short stature0MT-TL1 CL E G H4567551ORPHA17490590050
HP:0004322HP:0004322Short stature0MT-TP CL E G H4571551ORPHA17494590075
HP:0004322HP:0004322Short stature0MT-TQ CL E G H4572550ORPHA17495590030
HP:0004322HP:0004322Short stature0MT-TQ CL E G H4572551ORPHA17495590030
HP:0004322HP:0004322Short stature0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0004322HP:0004322Short stature0MT-TS1 CL E G H4574551ORPHA17497590080
HP:0004322HP:0004322Short stature0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0004322HP:0004322Short stature0MT-TS2 CL E G H4575551ORPHA17498590085
HP:0004322HP:0004322Short stature0MT-TW CL E G H4578550ORPHA17501590095
HP:0004322HP:0004322Short stature0MVK CL E G H459829ORPHA11832777530251170
HP:0004322HP:0004322Short stature0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0004322HP:0004322Short stature0MYH3 CL E G H46211147ORPHA1453157573160720
HP:0004322HP:0004322Short stature0MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM1453157573160720
HP:0004322HP:0004322Short stature0MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM1453157573160720
HP:0004322HP:0004322Short stature0MYH3 CL E G H46212053Ectodermal dysplasia neurosensory deafnessORPHA1453157573160720
HP:0004322HP:0004322Short stature0MYH7 CL E G H4625324604ORPHA1100224407577160760
HP:0004322HP:0004322Short stature0MYH8 CL E G H46263377CystinosisCN035091ORPHA132257578160741
HP:0004322HP:0004322Short stature0MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM132257578160741
HP:0004322HP:0004322Short stature0MYMK CL E G H3898271358ORPHA175733778615345
HP:0004322HP:0004322Short stature0NAA10 CL E G H8260568Aggressive fibromatosisORPHA11029618704300013
HP:0004322HP:0004322Short stature0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0004322HP:0004322Short stature0NALCN CL E G H2592321147ORPHA16524719082611549
HP:0004322HP:0004322Short stature0NALCN CL E G H2592322053Ectodermal dysplasia neurosensory deafnessORPHA16524719082611549
HP:0004322HP:0004322Short stature0NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM1113926742610647
HP:0004322HP:0004322Short stature0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM14415615625608025
HP:0004322HP:0004322Short stature0NBN CL E G H4683647ORPHA114820457652602667
HP:0004322HP:0004322Short stature0NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM114820457652602667
HP:0004322HP:0004322Short stature0NCAPD3 CL E G H233102512ORPHA1512128952609276
HP:0004322HP:0004322Short stature0NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM120116117619609449
HP:0004322HP:0004322Short stature0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0004322HP:0004322Short stature0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616320372300403
HP:0004322HP:0004322Short stature0NEK1 CL E G H47502751Hunter Carpenter Macdonald syndromeORPHA1303117744604588
HP:0004322HP:0004322Short stature0NEU1 CL E G H4758812ORPHA1641027758608272
HP:0004322HP:0004322Short stature0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641027758608272
HP:0004322HP:0004322Short stature0NF1 CL E G H4763638ORPHA1301164917765613113
HP:0004322HP:0004322Short stature0NF1 CL E G H4763139474ORPHA1301164917765613113
HP:0004322HP:0004322Short stature0NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM1301164917765613113
HP:0004322HP:0004322Short stature0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA139214377606470
HP:0004322HP:0004322Short stature0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0004322HP:0004322Short stature0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0004322HP:0004322Short stature0NKX2-1 CL E G H708095713ORPHA114313611825600635
HP:0004322HP:0004322Short stature0NKX2-5 CL E G H148295712ORPHA11122152488600584
HP:0004322HP:0004322Short stature0NKX2-5 CL E G H148295713ORPHA11122152488600584
HP:0004322HP:0004322Short stature0NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM1921416412606831
HP:0004322HP:0004322Short stature0NODAL CL E G H4838280200ORPHA1251017865601265
HP:0004322HP:0004322Short stature0NOG CL E G H92411412Coarse face hypotonia constipationORPHA164477866602991
HP:0004322HP:0004322Short stature0NOG CL E G H9241186570Tarsal carpal coalition syndrome186570C1861305OMIM164477866602991
HP:0004322HP:0004322Short stature0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA116014378606471
HP:0004322HP:0004322Short stature0NOTCH2 CL E G H4853955ORPHA1813947882600275
HP:0004322HP:0004322Short stature0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0004322HP:0004322Short stature0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13795917883600276
HP:0004322HP:0004322Short stature0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0004322HP:0004322Short stature0NPHP1 CL E G H4867110ORPHA1794037905607100
HP:0004322HP:0004322Short stature0NPHP1 CL E G H48673156ORPHA1794037905607100
HP:0004322HP:0004322Short stature0NPHP3 CL E G H270313156ORPHA1764417907608002
HP:0004322HP:0004322Short stature0NPHP4 CL E G H2617343156ORPHA111865919104607215
HP:0004322HP:0004322Short stature0NRAS CL E G H4893648ORPHA1141817989164790
HP:0004322HP:0004322Short stature0NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM1141817989164790
HP:0004322HP:0004322Short stature0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM1141817989164790
HP:0004322HP:0004322Short stature0NSD1 CL E G H64324228415ORPHA152589614234606681
HP:0004322HP:0004322Short stature0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0004322HP:0004322Short stature0NSUN2 CL E G H54888235ORPHA1726025994610916
HP:0004322HP:0004322Short stature0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM1726025994610916
HP:0004322HP:0004322Short stature0NUP107 CL E G H571222065ORPHA1124029914607617
HP:0004322HP:0004322Short stature0OBSL1 CL E G H233632616ORPHA13533129092610991
HP:0004322HP:0004322Short stature0OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM13533129092610991
HP:0004322HP:0004322Short stature0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12643428108300535
HP:0004322HP:0004322Short stature0OCRL CL E G H4952300555Dent disease 2300555C1845167OMIM12643428108300535
HP:0004322HP:0004322Short stature0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0004322HP:0004322Short stature0OFD1 CL E G H84812754ORPHA11625102567300170
HP:0004322HP:0004322Short stature0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0004322HP:0004322Short stature0OGDH CL E G H496731Serpiginous choroiditisORPHA11678124613022
HP:0004322HP:0004322Short stature0ORAI1 CL E G H848763204ORPHA11710125896610277
HP:0004322HP:0004322Short stature0OSGEP CL E G H556442065ORPHA1174618028610107
HP:0004322HP:0004322Short stature0OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0004322HP:0004322Short stature0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0004322HP:0004322Short stature0OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA178988522600037
HP:0004322HP:0004322Short stature0OTX2 CL E G H5015613986Pituitary hormone deficiency, combined 6613986C3151440OMIM178988522600037
HP:0004322HP:0004322Short stature0P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM111478548176790
HP:0004322HP:0004322Short stature0P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA111478548176790
HP:0004322HP:0004322Short stature0PALB2 CL E G H7972884ORPHA1417350326144610355
HP:0004322HP:0004322Short stature0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM124429679614336
HP:0004322HP:0004322Short stature0PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM122738604603005
HP:0004322HP:0004322Short stature0PARN CL E G H50733322ORPHA1291668609604212
HP:0004322HP:0004322Short stature0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1291668609604212
HP:0004322HP:0004322Short stature0PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA110528615167411
HP:0004322HP:0004322Short stature0PAX6 CL E G H5080893ORPHA15714968620607108
HP:0004322HP:0004322Short stature0PAX8 CL E G H784995712ORPHA1511438622167415
HP:0004322HP:0004322Short stature0PAX8 CL E G H784995713ORPHA1511438622167415
HP:0004322HP:0004322Short stature0PAX8 CL E G H784995720ORPHA1511438622167415
HP:0004322HP:0004322Short stature0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11493878653232000
HP:0004322HP:0004322Short stature0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11313018654232050
HP:0004322HP:0004322Short stature0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1612013406604918
HP:0004322HP:0004322Short stature0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM11408729176740
HP:0004322HP:0004322Short stature0PCNT CL E G H5116808Baker Vinters syndromeORPHA18888516068605925
HP:0004322HP:0004322Short stature0PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1201148773604961
HP:0004322HP:0004322Short stature0PDE3A CL E G H51391276ORPHA111738778123805
HP:0004322HP:0004322Short stature0PDE3A CL E G H5139112410Brachydactyly with hypertension112410C1862170OMIM111738778123805
HP:0004322HP:0004322Short stature0PDE4D CL E G H5144950ORPHA1452318783600129
HP:0004322HP:0004322Short stature0PDE6D CL E G H51472754ORPHA11398788602676
HP:0004322HP:0004322Short stature0PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1111348794603390
HP:0004322HP:0004322Short stature0PEX1 CL E G H5189772ORPHA11404898850602136
HP:0004322HP:0004322Short stature0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0004322HP:0004322Short stature0PEX1 CL E G H51893220ORPHA1140